Next generation sequencing for molecular diagnosis of neuromuscular diseases
2012 · Acta Neuropathologica · 93 citations
https://doi.org/10.1007/s00401-012-0982-8
J
Johann Böhm
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Johann Böhm is an academic researcher from Centre National de la Recherche Scientifique. The author has contributed to research in topics: Muscle Physiology and Disorders & Cardiomyopathy and Myosin Studies & Ion channel regulation and function. The author has an h-index of 34, co-authored 135 publications.
ORCID: 0000-0001-8019-9504Papers by this author
worksMuscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype
2014 · Acta Neuropathologica Communications · 92 citations
https://doi.org/10.1186/2051-5960-2-44
Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation
2010 · Orphanet Journal of Rare Diseases · 64 citations
https://doi.org/10.1186/1750-1172-5-35
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations
2024 · Genome Medicine · 10 citations
https://doi.org/10.1186/s13073-024-01353-0
ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome
2024 · JCI Insight · 5 citations
https://doi.org/10.1172/jci.insight.174866
Lessons Learned From Clinical Studies in Centronuclear Myopathies: The Patient Perspective—A Qualitative Study
2024 · Clinical Therapeutics · 4 citations
https://doi.org/10.1016/j.clinthera.2024.03.008
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